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Preimplantation Genetic Testing for Genetic Diseases: Limits and Review of Current Literature

Genes, 2023-11, Vol.14 (11), p.2095

2023

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Genetics & Epigenetics of Hereditary Deafness: An Historical Overview

Audiology research (Pavia, Italy), 2021-11, Vol.11 (4), p.629-635

2021

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PGT-M for Premature Ovarian Failure Related to CGG Repeat Expansion of the FMR1 Gene

Genes, 2024-01, Vol.15 (1), p.6

2024

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Homozygous TNNI3 Mutations and Severe Early Onset Dilated Cardiomyopathy: Patient Report and Review of the Literature

Genes, 2023-03, Vol.14 (3), p.748

2023

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Epilepsy in NF1: Epidemiologic, Genetic, and Clinical Features. A Monocentric Retrospective Study in a Cohort of 784 Patients

Cancers, 2021-12, Vol.13 (24), p.6336

2021

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Public Awareness and Acceptability of PGT-M in Cancer Predisposition Syndromes

Genes, 2023-11, Vol.14 (11), p.2069

2023

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DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature

Audiology research (Pavia, Italy), 2021-12, Vol.11 (4), p.582-593

2021

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The multiple roles of coenzyme Q in cellular homeostasis and their relevance for the pathogenesis of coenzyme Q deficiency

Free radical biology & medicine, 2021-04, Vol.166, p.277-286

2021

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A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms

European journal of human genetics : EJHG, 2024-03, Vol.32 (7), p.804-812

2024

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Epigenetics of pregnancy: looking beyond the DNA code

Journal of assisted reproduction and genetics, 2022-04, Vol.39 (4), p.801-816

2022

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CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes

Journal of neurology, 2024-05, Vol.271 (5), p.2859-2865

2024

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ZFHX4 truncating variant and orofacial clefting

American journal of medical genetics. Part A, 2024-01, Vol.194 (1), p.115-116

2024

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The impact of a second embryo biopsy for preimplantation genetic testing for monogenic diseases (PGT-M) with inconclusive results on pregnancy potential: results from a matched case–control study

Journal of assisted reproduction and genetics, 2024-05, Vol.41 (5), p.1173-1179

2024

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Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant

Clinical genetics, 2023-11, Vol.104 (5), p.604-606

2023

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PGT-M for Premature Ovarian Failure Related to CGG Repeat Expansion of the IFMR1/I Gene

Genes, 2023-12, Vol.15 (1)

2023

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Optic Pathway Glioma in Type 1 Neurofibromatosis: Review of Its Pathogenesis, Diagnostic Assessment, and Treatment Recommendations

Cancers, 2019-11, Vol.11 (11), p.1790

2019

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Homozygous ITNNI3/I Mutations and Severe Early Onset Dilated Cardiomyopathy: Patient Report and Review of the Literature

Genes, 2023-03, Vol.14 (3)

2023

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Inhibition of nitric oxide synthase expression by a methanolic extract of Crescentia alata and its derived flavonols

Life sciences (1973), 2001-12, Vol.70 (5), p.523-534

2001

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Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant

Tremor and other hyperkinetic movements (New York, N.Y.), 2024, Vol.14 (1), p.16-16

2024

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Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant

Clinical genetics, 2023, Vol.104 (5), p.604-606

2023

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What Do We Know About the Smallpox Virus? A Journey Between Clinic and Therapy

Pharmaceutical research, 2023-02, Vol.40 (2), p.459-465

2023

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COVID-19 mRNA Vaccines: A Retrospective Observational Pharmacovigilance Study

Clinical drug investigation, 2022-12, Vol.42 (12), p.1065-1074

2022

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Photobiomodulation and Pain Reduction in Patients Requiring Orthodontic Band Application: Randomized Clinical Trial

BioMed research international, 2020, Vol.2020, p.7460938-10

2020

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Do Digital and Communication Technologies Improve Smart Ports? A Fuzzy DEA Approach

IEEE transactions on industrial informatics, 2019-10, Vol.15 (10), p.5674-5681

2019

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Environmental Monitoring of ILegionella/I in Hospitals in the Campania Region: A 5-Year Study

International journal of environmental research and public health, 2023-04, Vol.20 (8)

2023

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Preimplantation Genetic Testing for Genetic Diseases: Limits and Review of Current Literature

Genetics & Epigenetics of Hereditary Deafness: An Historical Overview

PGT-M for Premature Ovarian Failure Related to CGG Repeat Expansion of the FMR1 Gene

Homozygous TNNI3 Mutations and Severe Early Onset Dilated Cardiomyopathy: Patient Report and Review of the Literature

Epilepsy in NF1: Epidemiologic, Genetic, and Clinical Features. A Monocentric Retrospective Study in a Cohort of 784 Patients

Public Awareness and Acceptability of PGT-M in Cancer Predisposition Syndromes

DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature

The multiple roles of coenzyme Q in cellular homeostasis and their relevance for the pathogenesis of coenzyme Q deficiency

A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms

Epigenetics of pregnancy: looking beyond the DNA code

CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes

ZFHX4 truncating variant and orofacial clefting

The impact of a second embryo biopsy for preimplantation genetic testing for monogenic diseases (PGT-M) with inconclusive results on pregnancy potential: results from a matched case–control study

Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant

PGT-M for Premature Ovarian Failure Related to CGG Repeat Expansion of the IFMR1/I Gene

Optic Pathway Glioma in Type 1 Neurofibromatosis: Review of Its Pathogenesis, Diagnostic Assessment, and Treatment Recommendations

Homozygous ITNNI3/I Mutations and Severe Early Onset Dilated Cardiomyopathy: Patient Report and Review of the Literature

Inhibition of nitric oxide synthase expression by a methanolic extract of Crescentia alata and its derived flavonols

Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant

Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant

What Do We Know About the Smallpox Virus? A Journey Between Clinic and Therapy

COVID-19 mRNA Vaccines: A Retrospective Observational Pharmacovigilance Study

Photobiomodulation and Pain Reduction in Patients Requiring Orthodontic Band Application: Randomized Clinical Trial

Do Digital and Communication Technologies Improve Smart Ports? A Fuzzy DEA Approach

Environmental Monitoring of ILegionella/I in Hospitals in the Campania Region: A 5-Year Study

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